A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606858



Internal ID6993793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135315332..135317228hg38UCSC Ensembl
Innerchr5:135315332..135317228hg38UCSC Ensembl
Outerchr5:135315191..135317489hg38UCSC Ensembl
chr5:134651022..134652918hg19UCSC Ensembl
Innerchr5:134651022..134652918hg19UCSC Ensembl
Outerchr5:134650881..134653179hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381897
hg191897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12067171, essv12067174, essv12067173, essv12067175, essv12067176, essv12067172
SamplesNA19038, HG02281, HG01183, NA19461, NA19310, NA19429
Known GenesC5orf66
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606858
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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